Incidental Mutation 'R2973:Ppef2'
ID 255276
Institutional Source Beutler Lab
Gene Symbol Ppef2
Ensembl Gene ENSMUSG00000029410
Gene Name protein phosphatase, EF hand calcium-binding domain 2
Synonyms
MMRRC Submission 040526-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2973 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 92374538-92404137 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92386953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 328 (E328G)
Ref Sequence ENSEMBL: ENSMUSP00000144157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031359] [ENSMUST00000201130]
AlphaFold O35385
Predicted Effect probably benign
Transcript: ENSMUST00000031359
AA Change: E328G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: E328G

DomainStartEndE-ValueType
IQ 18 40 3.48e-1 SMART
PP2Ac 141 544 1.97e-118 SMART
EFh 576 604 3.25e1 SMART
EFh 660 688 5.44e-3 SMART
EFh 700 728 1.67e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201130
AA Change: E328G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: E328G

DomainStartEndE-ValueType
IQ 18 40 3.48e-1 SMART
PP2Ac 141 544 1.97e-118 SMART
EFh 576 604 3.25e1 SMART
EFh 660 688 5.44e-3 SMART
EFh 700 728 1.67e0 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (44/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation appear to be phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,844,801 (GRCm39) F1508V probably damaging Het
Angptl7 T A 4: 148,584,671 (GRCm39) K26* probably null Het
Aoc1l1 A G 6: 48,953,358 (GRCm39) T428A probably benign Het
BC048507 T C 13: 68,011,749 (GRCm39) I42T probably benign Het
Cald1 A G 6: 34,734,931 (GRCm39) probably benign Het
Ces5a A G 8: 94,255,132 (GRCm39) F187S probably damaging Het
Chd3 A G 11: 69,251,442 (GRCm39) Y530H probably damaging Het
Crnkl1 A G 2: 145,774,181 (GRCm39) L94P probably benign Het
Cst9 G T 2: 148,677,145 (GRCm39) probably null Het
Cstdc2 T C 2: 148,692,706 (GRCm39) D32G probably benign Het
D930007J09Rik C T 13: 32,986,742 (GRCm39) probably benign Het
Dcaf10 T C 4: 45,373,957 (GRCm39) S461P probably benign Het
Dhx36 T A 3: 62,402,916 (GRCm39) N279Y probably benign Het
Dhx36 C G 3: 62,402,919 (GRCm39) G278R possibly damaging Het
Eps8l3 T C 3: 107,798,644 (GRCm39) I510T probably damaging Het
Gab2 A G 7: 96,872,759 (GRCm39) E54G probably benign Het
Gsdme A G 6: 50,206,304 (GRCm39) C180R probably damaging Het
Hesx1 A G 14: 26,722,599 (GRCm39) probably benign Het
Il5ra G A 6: 106,718,196 (GRCm39) P86L probably benign Het
Jakmip1 A G 5: 37,248,871 (GRCm39) K177R probably damaging Het
Larp4b T C 13: 9,216,347 (GRCm39) probably benign Het
Lrrc42 A T 4: 107,096,311 (GRCm39) D40E probably damaging Het
Mefv G A 16: 3,533,558 (GRCm39) R238* probably null Het
Mroh9 A T 1: 162,884,338 (GRCm39) M400K probably damaging Het
Or12j2 T G 7: 139,916,300 (GRCm39) F175C probably damaging Het
Or5ac22 A C 16: 59,135,767 (GRCm39) M1R probably null Het
Or5d37 A G 2: 87,923,458 (GRCm39) L274P probably benign Het
Plec C G 15: 76,072,961 (GRCm39) G631R probably damaging Het
Polr3b A G 10: 84,464,144 (GRCm39) K35E probably benign Het
Rogdi G T 16: 4,829,526 (GRCm39) Q90K probably damaging Het
Rtn1 C A 12: 72,270,163 (GRCm39) R116L probably damaging Het
Septin14 T C 5: 129,776,086 (GRCm39) H31R probably benign Het
Serpinb9e T A 13: 33,439,126 (GRCm39) V184E probably benign Het
Slc10a5 A T 3: 10,399,517 (GRCm39) I381N probably damaging Het
Slit1 G A 19: 41,599,455 (GRCm39) P1032L probably benign Het
Sptlc3 A G 2: 139,431,581 (GRCm39) T368A probably damaging Het
Tm9sf1 T A 14: 55,878,571 (GRCm39) T274S probably benign Het
Tpgs1 A G 10: 79,505,449 (GRCm39) E69G probably damaging Het
Trpv5 T C 6: 41,630,165 (GRCm39) S642G possibly damaging Het
Ttn A C 2: 76,632,661 (GRCm39) I12385S probably damaging Het
Ube2e2 T C 14: 18,630,321 (GRCm38) D137G possibly damaging Het
Ubr4 T C 4: 139,133,847 (GRCm39) Y748H probably benign Het
Ugt8a T C 3: 125,708,957 (GRCm39) H51R probably benign Het
Vcp T A 4: 42,996,315 (GRCm39) I16F probably damaging Het
Vmn2r117 A G 17: 23,678,830 (GRCm39) V798A probably damaging Het
Other mutations in Ppef2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Ppef2 APN 5 92,382,096 (GRCm39) missense probably damaging 1.00
IGL01105:Ppef2 APN 5 92,397,055 (GRCm39) missense possibly damaging 0.91
IGL01613:Ppef2 APN 5 92,383,679 (GRCm39) missense probably benign 0.01
IGL01793:Ppef2 APN 5 92,394,615 (GRCm39) missense probably damaging 1.00
IGL02529:Ppef2 APN 5 92,392,596 (GRCm39) missense probably damaging 1.00
IGL02702:Ppef2 APN 5 92,379,678 (GRCm39) missense probably benign 0.01
IGL02992:Ppef2 APN 5 92,383,759 (GRCm39) nonsense probably null
IGL02995:Ppef2 APN 5 92,383,759 (GRCm39) nonsense probably null
IGL02996:Ppef2 APN 5 92,383,759 (GRCm39) nonsense probably null
IGL03169:Ppef2 APN 5 92,383,759 (GRCm39) nonsense probably null
IGL02991:Ppef2 UTSW 5 92,383,759 (GRCm39) nonsense probably null
R0494:Ppef2 UTSW 5 92,400,952 (GRCm39) splice site probably benign
R0659:Ppef2 UTSW 5 92,378,368 (GRCm39) missense probably damaging 1.00
R0781:Ppef2 UTSW 5 92,392,689 (GRCm39) missense probably benign 0.39
R1162:Ppef2 UTSW 5 92,400,980 (GRCm39) missense probably benign 0.00
R1870:Ppef2 UTSW 5 92,398,371 (GRCm39) missense probably damaging 1.00
R2212:Ppef2 UTSW 5 92,376,581 (GRCm39) missense probably damaging 0.97
R3412:Ppef2 UTSW 5 92,376,581 (GRCm39) missense probably damaging 0.97
R3413:Ppef2 UTSW 5 92,376,581 (GRCm39) missense probably damaging 0.97
R3745:Ppef2 UTSW 5 92,387,010 (GRCm39) splice site probably benign
R4878:Ppef2 UTSW 5 92,376,599 (GRCm39) splice site probably null
R5027:Ppef2 UTSW 5 92,382,150 (GRCm39) missense probably damaging 1.00
R5156:Ppef2 UTSW 5 92,392,461 (GRCm39) critical splice donor site probably null
R5316:Ppef2 UTSW 5 92,383,670 (GRCm39) missense probably benign 0.00
R5590:Ppef2 UTSW 5 92,386,998 (GRCm39) missense probably damaging 0.99
R5773:Ppef2 UTSW 5 92,398,420 (GRCm39) missense probably damaging 1.00
R5881:Ppef2 UTSW 5 92,398,388 (GRCm39) nonsense probably null
R6032:Ppef2 UTSW 5 92,378,383 (GRCm39) missense probably benign 0.23
R6032:Ppef2 UTSW 5 92,378,383 (GRCm39) missense probably benign 0.23
R6182:Ppef2 UTSW 5 92,374,925 (GRCm39) missense probably damaging 1.00
R6335:Ppef2 UTSW 5 92,383,613 (GRCm39) missense probably damaging 1.00
R6645:Ppef2 UTSW 5 92,378,320 (GRCm39) missense probably benign 0.02
R7448:Ppef2 UTSW 5 92,376,563 (GRCm39) missense probably damaging 1.00
R7576:Ppef2 UTSW 5 92,400,993 (GRCm39) missense possibly damaging 0.87
R7968:Ppef2 UTSW 5 92,397,022 (GRCm39) missense probably damaging 0.99
R7988:Ppef2 UTSW 5 92,386,841 (GRCm39) missense probably benign 0.00
R8200:Ppef2 UTSW 5 92,393,251 (GRCm39) missense probably benign 0.13
R8212:Ppef2 UTSW 5 92,376,524 (GRCm39) missense possibly damaging 0.87
R9687:Ppef2 UTSW 5 92,386,746 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CACTGTTCCAGTTCCAGGTC -3'
(R):5'- CAGAACAGTAGTCTGAAAGGACTTAC -3'

Sequencing Primer
(F):5'- CGCCGGGATAGCTCCTTG -3'
(R):5'- GTAGTCTGAAAGGACTTACCATTTC -3'
Posted On 2014-12-29